CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1

LMNA GENE ANALYSIS

Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic.

The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings. The CMT2 subtype B1 (CMT2B1) is autosomal recessive and results from disease-causing variants in the LMNA gene encoding nuclear lamin A/C.  CMT2B1 is found primarly in patients of North Western African descent, with LMNA p.Arg298Cys being the most frequently reported variant (De Sandre-Giovannoli 2002 Am J Hum Genet 70:726–736).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.